Canonical Allele Identifier: CA372751627

Gene: DOCK8

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.463563C>T , CM000671.2:g.463563C>T	GRCh38
NC_000009.11:g.463563C>T , CM000671.1:g.463563C>T	GRCh37
NC_000009.10:g.453563C>T	NCBI36
NG_017007.1:g.253699C>T , LRG_196:g.253699C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_203447.4:c.6115C>T MANE Select	NP_982272.2:p.Gln2039Ter
ENST00000432829.7:c.6115C>T MANE Select	ENSP00000394888.3:p.Gln2039Ter
NM_001190458.1:c.5815C>T	NP_001177387.1:p.Gln1939Ter
NM_001190458.2:c.5815C>T	NP_001177387.1:p.Gln1939Ter
NM_001193536.1:c.5911C>T	NP_001180465.1:p.Gln1971Ter
NM_001193536.2:c.5911C>T	NP_001180465.1:p.Gln1971Ter
NM_203447.3:c.6115C>T , LRG_196t1:c.6115C>T	NP_982272.2:p.Gln2039Ter
ENST00000382329.1:c.4516C>T	ENSP00000371766.1:p.Gln1506Ter
ENST00000432829.6:c.6115C>T	ENSP00000394888.3:p.Gln2039Ter
ENST00000453981.5:c.5911C>T	ENSP00000408464.2:p.Gln1971Ter
ENST00000462618.1:n.9C>T
ENST00000469391.5:c.5815C>T	ENSP00000419438.1:p.Gln1939Ter
ENST00000495184.5:n.8070C>T
ENST00000683406.1:n.2590C>T
ENST00000684637.1:n.1796C>T
ENST00000685949.1:n.4903C>T
XM_011518045.1:c.5815C>T	XP_011516347.1:p.Gln1939Ter
XM_011518045.3:c.5815C>T	XP_011516347.1:p.Gln1939Ter
XM_011518046.1:c.5977C>T	XP_011516348.1:p.Gln1993Ter
XM_011518046.2:c.5977C>T	XP_011516348.1:p.Gln1993Ter
XM_011518047.1:c.5911C>T	XP_011516349.1:p.Gln1971Ter
XM_011518047.3:c.5911C>T	XP_011516349.1:p.Gln1971Ter
XM_011518048.1:c.5911C>T	XP_011516350.1:p.Gln1971Ter
XM_011518048.2:c.5911C>T	XP_011516350.1:p.Gln1971Ter
XM_011518049.1:c.4351C>T	XP_011516351.1:p.Gln1451Ter
XM_011518049.2:c.4351C>T	XP_011516351.1:p.Gln1451Ter
XM_017015173.1:c.5911C>T	XP_016870662.1:p.Gln1971Ter
XM_017015174.1:c.5977C>T	XP_016870663.1:p.Gln1993Ter
XR_929397.1:n.919+2399G>A
XR_929398.1:n.526+2399G>A